Spinal Muscular Atrophy
What's New
Last Posted: May 02, 2024
- Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.
Mei Lietsch et al. Int J Neonatal Screen 2024 10(2) - Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population.
Li Tan et al. Mol Genet Genomic Med 2024 12(4) e2425 - Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Oliver Schwartz et al. JAMA Pediatr 2024 4 - Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey.
Mary A Curry et al. Neurol Ther 2024 - Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
Ben Weisburd et al. medRxiv 2024 - Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.
Laurent Servais et al. J Neuromuscul Dis 2024 - Challenges and opportunities in spinal muscular atrophy therapeutics.
Crystal J J Yeo et al. Lancet Neurol 2024 1 (2) 205-218 - Development and assessment of educational materials for spinal muscular atrophy carrier screening in the Plain community.
Carly Eichten et al. J Genet Couns 2024 - Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy.
Alayne P Meyer et al. J Neuromuscul Dis 2023 11(1) 129-142 - Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium.
Tamara Dangouloff et al. Neuromuscul Disord 2023 3461-67
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:May 03, 2024
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